Two Case Studies From a Family With Primary Fanconi Syndrome

Sung Feng Wen, Aaron L. Friedman, Terry D. Oberley

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16 Scopus citations


We report two cases from a family with primary Fanconi syndrome. A 39-year-old white woman with a history of frequent bone fractures developed hypophosphatemia, hypouricemia, hypokalemia, metabolic acidosis, and renal glycosuria. Her 15-year-old son had renal glycosuria without metabolic acidosis. Both had mildly to moderately impaired renal function. Determination of amino acids in 24-hour urine specimens confirmed the generalized nature of aminoaciduria. Acid-loading, bicarbonate-loading, and phosphate-loading tests revealed that the mother had proximal (type II) renal tubular acidosis and excessive renal loss of phosphate for her level of renal function. These tests for the son were normal or within normal limits of his renal function. Known causes of Fanconi syndrome, such as cystinosis and Wilson's disease, were excluded by slit-lamp eye examination and leukocyte cystine level determination. One unexpected finding in the son was the presence of nephrocalcinosis on x-rays; a percutaneous needle biopsy of the kidney showed tubular atrophy, interstitial fibrosis, and calcium oxalate crystal deposits. The two cases presented here represent a familial variety of the primary Fanconi syndrome, a rare entity with a limited number of cases reported in the literature.

Original languageEnglish (US)
Pages (from-to)240-246
Number of pages7
JournalAmerican Journal of Kidney Diseases
Issue number3
StatePublished - 1989

Bibliographical note

Funding Information:
From the Departments of Medicine, Pediatrics, and Pathology, University of Wisconsin Center for Health Sciences, and the Pathology Service, J.i>terans Administration Hospital, Madison, Wisconsin. Supported in part by grants from the University of Wisconsin Medical School and Graduate School, Department of Medicine Research and Development Fund, American Diabetes Association Wisconsin Affiliate, National Kidney Foundation of Wisconsin, and the J.i>terans Administration. Address reprint requests to Sung-Feng Wen, MD, H4/522 Clinical Science Center, 600 Highland Ave, Madison, WI 53792. © 1989 by the National Kidney Foundation, Inc. 0272-6386/89/1303-0011 $3.00/0


  • Primary Fanconi syndrome, familial
  • bicarbonate loading
  • kidney biopsy
  • nephrocalcinosis
  • phosphate loading
  • renal tubular acidosis, proximal
  • urinary acidification


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